Abstract

Epstein–Barr virus (EBV) is a ubiquitous human pathogen, infecting > 90% of the adult population. In the vast majority of healthy individuals, infection with EBV runs a relatively benign course. However, EBV is by no means a benign pathogen. Indeed, apart from being associated with at least seven different types of malignancies, EBV infection can cause severe and often fatal diseases—hemophagocytic lymphohistiocytosis, lymphoproliferative disease, B-cell lymphoma—in rare individuals with specific monogenic inborn errors of immunity. The discovery and detailed investigation of inborn errors of immunity characterized by heightened susceptibility to, or increased frequency of, EBV-induced disease have elegantly revealed cell types and signaling pathways that play critical and non-redundant roles in host-defense against EBV. These analyses have revealed not only mechanisms underlying EBV-induced disease in rare genetic conditions, but also identified molecules and pathways that could be targeted to treat severe EBV infection and pathological consequences in immunodeficient hosts, or even potentially enhance the efficacy of an EBV-specific vaccine.

中文翻译：

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EBV感染的遗传易感性：来自先天性免疫错误的见解。

摘要

爱泼斯坦巴尔病毒（EBV）是一种普遍存在的人类病原体，感染了超过90％的成年人口。在绝大多数健康个体中，EBV感染是一个相对良性的过程。但是，EBV绝不是良性病原体。确实，除了与至少七种不同类型的恶性肿瘤相关外，EBV感染还可以在罕见的具有特定的单基因先天性免疫缺陷的个体中引起严重且通常是致命的疾病，如嗜血性淋巴细胞性组织细胞增生症，淋巴增生性疾病，B细胞淋巴瘤。以对EBV引起的疾病的易感性增加或频率增加为特征的免疫力先天性错误的发现和详细研究优雅地揭示了在宿主针对EBV的防御中起关键和非冗余作用的细胞类型和信号通路。